Clinical Case 097: Paediatric Short case

Ok a quick case from the Paedtric portfolio.

Kathleen is a 13 yo young lady – she presents to the ED with her Mum.  She is a petite girl wearing a fluorescent leotard and supporting a sore wrist.  The triage note states: “Gymnastics injury ? # distal radius

She sure is tender over the dorsal aspect of her distal radius.  The bedside ultrasound shows a bit of tissue oedema – but no definitive fracture.  So might as well get an Xray!

There is a bit of a wait for the Xray as the department is backed up, and it is a slow afternoon in ED – so you decide to make a bit of medical small talk.

Kathleen is a super-keen gymnast – her mother has been coaching her since she was 5 and they think she has a shot at getting into the summer training camp at the AIS.

You take a bit of a glance through her old notes – it is pretty benign aside from a UTI at age 2 yrs and a really long run of acute otits media presentations throughout her primary school years.

One of the junior RMOs thought they heard a systolic murmur during a febrile earache  a few years back – no follow up documented.

She seems to have been pretty well over the last 3 years – no ED presentations since age 10 years.

OK – finally the Xray is back…

No fracture seen..

Source: Radiopedia
Source: Radiopedia

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1)OK – simple question – what is the unifying diagnosis?

2) What other history / examination findings will you go looking for?

3)  What is the diagnostic test required?

 

(1)This is Turner’s syndrome – possibly a mosaic pattern if not all features are present and a late presentation. Though about 30% of 45XO are diagnosed in adolescence – probably less nowadays with the use of widespread antenatal screening.

(2)  Other features on history – delayed menarche (ask about sibs etc), heart defects, renal defects – eg. horseshoe, UTIs, recurrent otitis media osteoporosis, scoliosis,

Exam findings – oedema of hands / feet, webbed neck, typical facies (drooping eyelids, widest eyes, low ears, low hairline, shield chest, wide spaced nipples – these are all more obvious at birth.

(3)  Get a karyotype.

There are a heap of interventions to consider – mainly Growth hormone to maintain growth prior to epiphyseal fusion, and exogenous oestrogen to develop secondary sexual features.

Also risk of behavioural, learning and social problems – so need to be assessed for these.

Some women with Turners are fertile and so counselling around potential family planning is required later in life.

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